Canonical Allele Identifier: CA386305646

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101796681-T-C
• MyVariant Identifiers: chr12:g.102190459T>C (hg19) ; chr12:g.101796681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796681T>C , CM000674.2:g.101796681T>C	GRCh38
NC_000012.11:g.102190459T>C , CM000674.1:g.102190459T>C	GRCh37
NC_000012.10:g.100714590T>C	NCBI36
NG_021243.1:g.39187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.199A>G MANE Select	ENSP00000299314.7:p.Asn67Asp
ENST00000647144.1:n.319A>G
ENST00000299314.11:c.199A>G	ENSP00000299314.7:p.Asn67Asp
ENST00000392919.4:c.199A>G	ENSP00000376651.4:p.Asn67Asp
ENST00000549165.1:c.199A>G	ENSP00000450413.1:p.Asn67Asp
ENST00000549940.5:c.199A>G	ENSP00000449150.1:p.Asn67Asp
NM_024312.4:c.199A>G	NP_077288.2:p.Asn67Asp
XM_006719593.2:c.199A>G	XP_006719656.1:p.Asn67Asp
XM_011538731.1:c.118A>G	XP_011537033.1:p.Asn40Asp
XM_006719593.3:c.199A>G	XP_006719656.1:p.Asn67Asp
XM_011538731.2:c.118A>G	XP_011537033.1:p.Asn40Asp
XM_017019961.1:c.-18A>G	XP_016875450.1:n.-18A>G
XM_017019962.2:c.-1152A>G	XP_016875451.1:n.-1152A>G
NM_024312.5:c.199A>G MANE Select	NP_077288.2:p.Asn67Asp